Results 41 to 50 of about 1,837 (195)
Human COL2A1-directed SV40 T antigen expression in transgenic and chimeric mice results in abnormal skeletal development [PDF]
, 1995 The ability of SV40 T antigen to cause abnormalities in cartilage development in transgenic mice and chimeras has been tested. The cis- regulatory elements of the COL2A1 gene were used to target expression of SV40 T antigen to differentiating ...
Cheah, KSE +8 more
core +1 more source
Two novel mutations within FREM1 gene in patients with bifid nose
BMC Pediatrics, 2023 Background Bifid nose is a rare congenital deformity and the etiology is unknown. The purpose of this study was to report genetic variation in family of patients with bifid nose.
Xiaoxue Chen +5 more
doaj +1 more source
Three-dimensional laser surface imaging and geometric morphometrics resolve frontonasal dysmorphology in schizophrenia. [PDF]
, 2007 BACKGROUND: Although a role for early developmental disturbance(s) in schizophrenia is postulated, it has proved difficult to identify hard, biological evidence. The brain and face emerge in embryologic intimacy, such that in neurodevelopmental disorders,
Baldwin, Patrizia A +4 more
core +2 more sources
Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (V)
Taiwanese Journal of Obstetrics & Gynecology, 2008 Fetuses with neural tube defects (NTDs) may suffer from associated syndromes and disorders. This article provides a comprehensive review of the syndromes and disorders associated with NTDs, including Pallister-Hall syndrome, Walker-Warburg syndrome and ...
Chih-Ping Chen
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 2007 In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients
Vera Lúcia Gil-da-Silva-Lopes +1 more
doaj +1 more source
Neurodevelopmental abnormalities in children with PHACE syndrome. [PDF]
, 2012 Prior case reports have identified neurodevelopmental abnormalities in children with PHACE syndrome, a neurocutaneous disorder first characterized in 1996.
Barkovich, A James +8 more
core +1 more source
Pai syndrome associated with vomer agenesis: case report with review of literature
The Egyptian Journal of Radiology and Nuclear MedicineBackground Frontonasal Dysplasia (FND) is an uncommon developmental defect affecting the midface, leading to abnormal facial development. Pai Syndrome is a part of the frontonasal dysplasia spectrum, is typically marked by median cleft lip, cutaneous ...
Kamala Manogna Nibhanupudi +5 more
doaj +1 more source
The acrocallosal syndrome: A case report and literature survey [PDF]
, 2009 Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey +2 more
core +1 more source
The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases
MedComm, Volume 7, Issue 4, April 2026.Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi +5 more
wiley +1 more source
Periventricular Heterotopia and Retardation
Pediatric Neurology Briefs, 1997 Three unrelated boys with a new multiple congenital anomaly-mental retardation syndrome are reported from the University of Minnesota Medical School, and the Universita Degli Studi di Pisa, Italy.
J Gordon Millichap
doaj +1 more source